ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)

gnomAD frequency: 0.00001  dbSNP: rs200788163
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627319 SCV000748311 pathogenic not provided 2023-09-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31345219, 33867250, 29209020)
Institute of Human Genetics, University of Leipzig Medical Center RCV000656346 SCV001439963 pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2019-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000656346 SCV003835358 likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2022-08-04 criteria provided, single submitter clinical testing
OMIM RCV000656346 SCV000778319 pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2019-12-02 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004735685 SCV005356988 likely pathogenic PHIP-related disorder 2024-05-23 no assertion criteria provided clinical testing The PHIP c.2902C>T variant is predicted to result in premature protein termination (p.Arg968*). This variant was reported in two unrelated individuals with developmental delay, obesity, and dysmorphism; and in at least one case, this variant was observed de novo (Jansen et al. 2018. PubMed ID: 29209020; Kaur et al. 2021. PubMed ID: 33867250). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in PHIP are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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